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Published on: January 31, 2022
Autopsy relevance determining hemochromatosis: Case report
Sigitas Chmieliauskas1, Dalius Banionis, Sigitas Laima
1Department of Pathology, Forensic Medicine and Pharmacology, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius University State Forensic Medicine Service Faculty of Natural Sciences, Vilnius University, Vilnius, Lithuania.
Rationale:
Hemochromatosis is a disorder, associated with an abnormal accumulation of iron leading to toxic organ damage. Clinical symptoms develop during a long period of time, thus, determining accidental or late diagnosis, usually when complications are evident.
Patient Concerns:
A 53-year-old man was brought to the emergency unit with symptoms of hypovolemic shock without any apparent cause, which ultimately led to multiple organ failure, severe metabolic acidosis.
Diagnoses:
The final diagnosis of hemochromatosis was determined after the autopsy.
Interventions:
Abnormal findings included a black-grayish pancreas, without any surrounding tissue reaction, and a dilated congestive cardiomyopathy. Histological findings revealed significant hemosiderin deposits in the internal organs, which were more distinct in the pancreas, liver, and kidneys.
Outcomes:
Patient death in less than 12 hours.
Lessons:
The necessity of a genetic examination after the autopsy, regarding this case was undeniable, especially focusing on the first-degree relatives, helping to diagnose and prescribe an adequate and early treatment.
